ArticleNature genetics2013
Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease.
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed.
- De novo variant analysis of childhood-onset obsessive-compulsive disorder in the French-Canadian population.Translational psychiatry · 2025Article
- Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.Experimental & molecular medicine · 2024Article
- Article
- Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.Molecular psychiatry · 2022Article
- Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Autism-associatedeLife · 2021Article
- Voltage-Gated CaFrontiers in synaptic neuroscience · 2021Review
- Overexpression of NEUROG2 and NEUROG1 in human embryonic stem cells produces a network of excitatory and inhibitory neurons.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Review
- Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.Human genetics · 2018Article
- Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2018Review
- A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes.Human mutation · 2017Article
- Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism.Nature · 2016Article
- Risk of psychiatric illness from advanced paternal age is not predominantly from de novo mutations.Nature genetics · 2016Article
- Advancing the understanding of autism disease mechanisms through genetics.Nature medicine · 2016Review
- Disease and Polygenic Architecture: Avoid Trio Design and Appropriately Account for Unscreened Control Subjects for Common Disease.American journal of human genetics · 2016Article
- Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.Molecular psychiatry · 2016Article
- Functional and Genomic Features of Human Genes Mutated in Neuropsychiatric Disorders.The open neurology journal · 2016Article
- Genetic studies in intellectual disability and related disorders.Nature reviews. Genetics · 2016Review
- RELN Mutations in Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2016Review
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pedigree, linkage and association studies are consistent with heritable variation for complex disease due to the segregation of genetic factors in families and in the population. In contrast, de novo mutations make only minor contributions to heritability estimates for complex traits. Nonetheless, some de novo variants are known to be important in disease etiology. The identification of risk-conferring de novo variants will contribute to the discovery of etiologically relevant genes and pathways and may help in genetic counseling. There is considerable interest in the role of such mutations in complex neuropsychiatric disease, largely driven by new genotyping and sequencing technologies. An important role for large de novo copy number variations has been established. Recently, whole-exome sequencing has been used to extend the investigation of de novo variation to point mutations in protein-coding regions. Here, we consider several challenges for the interpretation of such mutations in the context of their role in neuropsychiatric disease.
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Registered trials
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